FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

Antzeko izenburuak

• FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
  nork: Shaheen, Ranad, et al.
  Argitaratua: (2010)
• Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
  nork: Kelley, Brian P, et al.
  Argitaratua: (2011)
• A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype
  nork: Aldahmesh, Mohammed A., et al.
  Argitaratua: (2010)
• Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients
  nork: Zhou, Peiran, et al.
  Argitaratua: (2014)
• Natural human knockouts and the era of genotype to phenotype
  nork: Alkuraya, Fowzan S
  Argitaratua: (2015)